Detalles de la búsqueda
1.
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance.
EMBO J
; 39(8): e102468, 2020 04 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-32154600
2.
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Am J Hum Genet
; 108(2): 295-308, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33508235
3.
Has retinal gene therapy come of age? From bench to bedside and back to bench.
Hum Mol Genet
; 28(R1): R108-R118, 2019 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31238338
4.
Single systemic transfer of a human gene associated with exceptional longevity halts the progression of atherosclerosis and inflammation in ApoE knockout mice through a CXCR4-mediated mechanism.
Eur Heart J
; 41(26): 2487-2497, 2020 07 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31289820
5.
Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2).
Circ Res
; 121(5): 525-536, 2017 Aug 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-28620067
6.
Triple Vectors Expand AAV Transfer Capacity in the Retina.
Mol Ther
; 26(2): 524-541, 2018 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29292161
7.
ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.
Retina
; 39(7): 1399-1409, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29642238
8.
SEPN1, an endoplasmic reticulum-localized selenoprotein linked to skeletal muscle pathology, counteracts hyperoxidation by means of redox-regulating SERCA2 pump activity.
Hum Mol Genet
; 24(7): 1843-55, 2015 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25452428
9.
Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.
Hum Mol Genet
; 24(23): 6811-25, 2015 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26420842
10.
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.
Lancet
; 388(10045): 661-72, 2016 Aug 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-27375040
11.
Genetic Analysis Reveals a Longevity-Associated Protein Modulating Endothelial Function and Angiogenesis.
Circ Res
; 117(4): 333-45, 2015 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-26034043
12.
Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease.
Mol Ther
; 24(12): 2054-2063, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27658524
13.
A Comprehensive Map of CNS Transduction by Eight Recombinant Adeno-associated Virus Serotypes Upon Cerebrospinal Fluid Administration in Pigs.
Mol Ther
; 24(2): 276-286, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26639405
14.
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Retina
; 37(8): 1581-1590, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-27828912
15.
Large gene delivery to the retina with AAV vectors: are we there yet?
Gene Ther
; 28(5): 220-222, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32661283
16.
Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression.
Mol Ther
; 23(5): 885-895, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25669433
17.
Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.
Adv Exp Med Biol
; 854: 533-9, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26427456
18.
Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age.
Circulation
; 129(25): 2673-81, 2014 Jun 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-24888331
19.
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.
Mol Ther
; 22(1): 10-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24247928
20.
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.
Mol Ther
; 22(5): 901-7, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24448160